Abstract
Introduction
There is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of consensus is also critical to inform priorities for future evaluative research.
Methods
We surveyed Canadian metabolic physicians on the treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and mitochondrial trifunctional protein (MTP) deficiency. We ascertained physicians’ opinions on the use of different interventions for the long-term management of patients as well as for the management of acute illness, focusing on identifying interventions characterized by high variability in opinions. We also investigated factors influencing treatment decisions.
Results
We received 18 responses (response rate 45%). Participants focused on avoidance of fasting and increased meal frequency as interventions for the management of MCAD deficiency. For the long-chain disorders, avoidance of fasting remained the most consistently endorsed intervention, with additional highly endorsed treatments differing for VLCAD versus LCHAD/MTP deficiency. L-carnitine supplementation and restriction of dietary fat were characterized by high variability in physicians’ opinions, as were several interventions specific to long-chain disorders. Social factors and patient characteristics were important influences on treatment decisions.
Conclusions
Based on our findings we suggest that high priority treatments for rigorous effectiveness studies could include L-carnitine supplementation (MCAD and LCHAD/MTP deficiencies), restriction of dietary fat, and, for the long-chain disorders, feeding practices for breastfed infants and the use of various supplements (essential fatty acids, carbohydrates, cornstarch, multivitamins).
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Acknowledgements
We gratefully acknowledge the contributions of Joseph TR Clarke and David Moher. This study was supported by funding from the University of Ottawa. J Little is supported by a Canada Research Chair in Human Genome Epidemiology. K Wilson is supported by a Canada Research Chair in Public Health Policy.
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Communicated by: Bridget Wilcken
Competing interests: None declared.
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Potter, B.K., Little, J., Chakraborty, P. et al. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J Inherit Metab Dis 35, 115–123 (2012). https://doi.org/10.1007/s10545-011-9352-2
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DOI: https://doi.org/10.1007/s10545-011-9352-2